Canonical Allele Identifier: CA633315346

Gene: CBLC

Linked Data

• dbSNP Id: rs1568563997
• gnomAD v2: 19-45296940-AGCCTGGACTCCTGGGTCTGAGGGAGGAGAGACTGGGG-A
• gnomAD v3: 19-44793683-AGCCTGGACTCCTGGGTCTGAGGGAGGAGAGACTGGGG-A
• gnomAD v4: 19-44793683-AGCCTGGACTCCTGGGTCTGAGGGAGGAGAGACTGGGG-A
• MyVariant Identifiers: chr19:g.45296941_45296977del (hg19) ; chr19:g.44793684_44793720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44793708_44793744del , CM000681.2:g.44793708_44793744del	GRCh38
NC_000019.9:g.45296965_45297001del , CM000681.1:g.45296965_45297001del	GRCh37
NC_000019.8:g.49988805_49988841del	NCBI36
NG_054718.1:g.20854_20890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647358.2:c.1284+88_1284+124del MANE Select	ENSP00000494162.1:n.1284+88_1284+124del
ENST00000270279.7:c.1284+88_1284+124del	ENSP00000270279.3:n.1284+88_1284+124del
ENST00000341505.4:c.1146+88_1146+124del	ENSP00000340250.4:n.1146+88_1146+124del
NM_001130852.1:c.1146+88_1146+124del	NP_001124324.1:n.1146+88_1146+124del
NM_012116.3:c.1284+88_1284+124del	NP_036248.3:n.1284+88_1284+124del
XM_005258696.2:c.1284+88_1284+124del	XP_005258753.1:n.1284+88_1284+124del
XM_011526688.1:c.1284+88_1284+124del	XP_011524990.1:n.1284+88_1284+124del
XM_011526689.1:c.1146+88_1146+124del	XP_011524991.1:n.1146+88_1146+124del
XR_935783.1:n.1231+88_1231+124del
NM_012116.4:c.1284+88_1284+124del MANE Select	NP_036248.3:n.1284+88_1284+124del
XM_005258696.3:c.1284+88_1284+124del	XP_005258753.1:n.1284+88_1284+124del
XM_011526688.2:c.1284+88_1284+124del	XP_011524990.1:n.1284+88_1284+124del
XM_011526689.2:c.1146+88_1146+124del	XP_011524991.1:n.1146+88_1146+124del
XR_935783.2:n.1236+88_1236+124del